Biochemical Genetics Laboratory
The Biochemical Genetics Laboratory functions under the direction of Dr. Ayesha Ahmad and Dr. Shane Quinonez to identify and quantify analytes for the diagnosis and management of patients with inborn errors of metabolism and those identified as abnormal through newborn screening. The lab uses state of the art HPLC (Biochrom) to quantify amino acids in plasma, CSF and urine, and GC/MS (Agilent 5975B) to identify the TMS derivatives of urinary organic acids. Additional tests include leukocyte cystine for cystinosis, DNPH for ketoacids in urine, plasma biotinidase, and plasma homocysteine. Tandem MS/MS is being developed for acylcarnitine profiling for the diagnosis of fatty acid oxidation disorders. Clinical consultation is available for explanation of results and assistance with further evaluation.